Canonical Allele Identifier: CA348047982

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897047T>A , CM000664.2:g.108897047T>A GRCh38
NC_000002.11:g.109513503T>A , CM000664.1:g.109513503T>A GRCh37
NC_000002.10:g.108879935T>A NCBI36
NG_008257.1:g.97326A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1207A>T (EDAR) MANE Select ENSP00000258443.2:p.Thr403Ser
ENST00000258443.6:c.1207A>T (EDAR) ENSP00000258443.2:p.Thr403Ser
ENST00000376651.1:c.1303A>T (EDAR) ENSP00000365839.1:p.Thr435Ser
ENST00000409271.5:c.1303A>T (EDAR) ENSP00000386371.1:p.Thr435Ser
NM_022336.3:c.1207A>T (EDAR) NP_071731.1:p.Thr403Ser
XM_006712204.1:c.1303A>T (EDAR) XP_006712267.1:p.Thr435Ser
XM_011510502.1:c.1354A>T (EDAR) XP_011508804.1:p.Thr452Ser
XM_011510503.1:c.1258A>T (EDAR) XP_011508805.1:p.Thr420Ser
XM_011510504.1:c.634A>T (EDAR) XP_011508806.1:p.Thr212Ser
XM_011510502.2:c.1447A>T (EDAR) XP_011508804.2:p.Thr483Ser
XM_011510503.2:c.1351A>T (EDAR) XP_011508805.2:p.Thr451Ser
XM_017004623.2:c.8370+124001T>A (RANBP2) XP_016860112.1:n.8370+124001T>A
NM_022336.4:c.1207A>T (EDAR) MANE Select NP_071731.1:p.Thr403Ser